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Master Thesis

Description clinique, génétique et électroneuromyographique de 21 patients présentant une maladie de Charcot-Marie-Tooth par mutation du gène de la Périaxine

Abstract : Introduction: Charcot-Marie-Tooth disease subtype 4F is the most represented subtype at the Reunion Island. The objective of the study is to describe the cohort of patients from Reunion Island with the same homozygous mutation c.3253dup [p. (Glu1085Glyfs*4)]. In addition, we wanted to assess the evolution of the pathology in Reunionese patients already described by Renouil and al in 2013 and thus attempt to establish the natural history of this pathology. Method: We described the clinical, genetic and electromyographic phenotype of 21 Reunionese patients and were able to establish the clinical course for 11 of them between 2013 and 2019. Results: This study confirms an early onset of the disease (with a severe course leading to loss of walking in 28.6% of patients), major and early balance disorders, a high rate of orthopedic deformities, visual/auditory disorders, and pain phenomena. The mean CMTNS score is 21.3 ± 8.6 demonstrating severe sensory-motor impairment. Other conditions are more common, namely, dyspraxia, swallowing disorders and respiratory restrictive syndromes. The perception of the quality of life is generally poor. The study of patients in common with the 2013 study found the appearance of various disorders (orthopedic, sensory, pneumological). Discussion: This study confirms the presence of a severe demyelinating neuropathy of infantile onset with ataxia in the foreground and osteo-articular deformities. However, it underlines a phenotypic variability whereas the patients carry the same homozygous mutation of the PRX gene. It seems essential, from childhood, to institute multidisciplinary care with systematic ophthalmological and ENT monitoring.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-03195737
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Submitted on : Monday, April 12, 2021 - 9:52:28 AM
Last modification on : Tuesday, October 19, 2021 - 5:56:41 PM
Long-term archiving on: : Tuesday, July 13, 2021 - 6:30:26 PM

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  • HAL Id : dumas-03195737, version 1
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Joana Martin. Description clinique, génétique et électroneuromyographique de 21 patients présentant une maladie de Charcot-Marie-Tooth par mutation du gène de la Périaxine. Sciences du Vivant [q-bio]. 2020. ⟨dumas-03195737⟩

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